Incidental Mutation 'IGL01731:Cxcl1'
ID105473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cxcl1
Ensembl Gene ENSMUSG00000029380
Gene Namechemokine (C-X-C motif) ligand 1
SynonymsKC/GRO-alpha, Scyb1, Gro1, Fsp, Mgsa, KC, N51
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.173) question?
Stock #IGL01731
Quality Score
Status
Chromosome5
Chromosomal Location90891241-90893115 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90891577 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 60 (T60A)
Ref Sequence ENSEMBL: ENSMUSP00000031327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031327]
Predicted Effect probably benign
Transcript: ENSMUST00000031327
AA Change: T60A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000031327
Gene: ENSMUSG00000029380
AA Change: T60A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
SCY 30 90 1.01e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201245
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that is a member of the CXC subfamily of chemokines. Chemokines, which recruit and activate leukocytes, are classified by function (inflammatory or homeostatic) or by structure. This secretory protein is proposed to bind the G-protein coupled receptor chemokine (C-X-C motif) receptor 2 to recruit neutrophils. In mouse, deficiency of this gene is associated with colitis and with defects in immune cell recruitment to the lung. [provided by RefSeq, Apr 2013]
PHENOTYPE: Targeted mutations in this gene when combine with targeted mutation of Ldlr decreases susceptibility to atherosclerotic lesions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430093F15Rik T A 19: 10,785,347 probably benign Het
Abca13 T C 11: 9,249,749 probably benign Het
Abcc6 G A 7: 46,002,610 P611L possibly damaging Het
Acsl6 A G 11: 54,350,559 E547G probably benign Het
Aldh1b1 T C 4: 45,803,472 F337L possibly damaging Het
Alg1 C T 16: 5,244,519 R422C probably benign Het
Ankrd23 A G 1: 36,534,066 L75S probably damaging Het
Arid5b T C 10: 68,097,609 H578R probably damaging Het
Atp10a G T 7: 58,797,562 W684L probably benign Het
Bzw2 T C 12: 36,107,648 probably null Het
C2cd2 A T 16: 97,870,172 I509K probably damaging Het
Card11 T C 5: 140,882,302 T864A possibly damaging Het
Ces1f A G 8: 93,267,320 S278P possibly damaging Het
Chd8 T C 14: 52,212,654 I208V probably benign Het
Cstf2t T C 19: 31,084,338 S425P probably benign Het
Diaph1 G T 18: 37,853,709 probably benign Het
Exoc3l T G 8: 105,292,955 K394T probably benign Het
Fabp4 T C 3: 10,205,233 probably benign Het
Fam234b T A 6: 135,211,905 F169L possibly damaging Het
Hectd1 C A 12: 51,802,810 D204Y possibly damaging Het
Hephl1 A T 9: 15,069,770 Y789N probably damaging Het
Igfbp6 C A 15: 102,144,817 N90K probably benign Het
Khdrbs1 A T 4: 129,725,669 D226E probably benign Het
Lipo4 T A 19: 33,512,613 Q163L probably damaging Het
Med13l T C 5: 118,742,407 I1188T probably benign Het
Mki67 T C 7: 135,696,549 E2252G probably benign Het
Nepn G T 10: 52,400,564 R132L probably benign Het
Nlrp9b T A 7: 20,023,417 L193* probably null Het
Ntn1 A G 11: 68,385,418 S235P probably damaging Het
Nup210l G T 3: 90,154,566 R684L probably damaging Het
Obp2b A G 2: 25,739,281 S154G possibly damaging Het
Olfr1129 A G 2: 87,575,938 T285A probably benign Het
Olfr1308 A G 2: 111,960,635 V146A probably benign Het
Olfr491 A T 7: 108,317,475 I194F probably benign Het
Olfr623 T A 7: 103,660,846 T135S probably benign Het
Polr3b A T 10: 84,631,840 R95* probably null Het
Prelid2 C T 18: 41,937,649 V40M probably benign Het
Ptprb T G 10: 116,372,876 L2205R probably damaging Het
R3hcc1l T C 19: 42,562,801 V79A probably benign Het
Rnf219 T C 14: 104,479,302 D545G probably damaging Het
Stam2 A G 2: 52,708,150 I259T probably damaging Het
Tdpoz4 A T 3: 93,796,882 N162I possibly damaging Het
Tuba3a A G 6: 125,282,758 V75A possibly damaging Het
Vmn2r73 A T 7: 85,857,549 *852K probably null Het
Wdr78 T C 4: 103,062,435 I139V probably benign Het
Zfp7 C T 15: 76,888,305 Q69* probably null Het
Zfp865 G T 7: 5,029,876 A287S probably benign Het
Zmpste24 T A 4: 121,097,884 Q39L probably benign Het
Other mutations in Cxcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Cxcl1 APN 5 90891575 missense probably damaging 1.00
IGL01585:Cxcl1 APN 5 90891724 missense probably damaging 1.00
R0973:Cxcl1 UTSW 5 90891767 nonsense probably null
R0973:Cxcl1 UTSW 5 90891767 nonsense probably null
R0974:Cxcl1 UTSW 5 90891767 nonsense probably null
R3118:Cxcl1 UTSW 5 90891595 critical splice donor site probably null
R5114:Cxcl1 UTSW 5 90891514 missense probably benign 0.00
R7111:Cxcl1 UTSW 5 90891323 missense unknown
Posted On2014-01-21